Secondary developmental glaucoma

IF 1 Q4 OPHTHALMOLOGY Taiwan Journal of Ophthalmology Pub Date : 2023-10-16 DOI:10.4103/tjo.tjo-d-23-00064
Sushmita Kaushik, Jyoti Singh, Surinder Singh Pandav
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Abstract

Abstract The basic pathophysiology of all childhood glaucoma results from impaired outflow through the trabecular meshwork. Anterior Segment Dysgeneses (ASD) are a group of nonacquired anomalies associated with secondary developmental glaucoma, characterized by impaired development of the structures of the anterior segment. Many genes impact the development of the anterior segment. The cause of the development of the abnormalities is thought to be multifactorial. Molecular research has helped our understanding of the molecular basis of ASD and the developmental mechanisms underlying these conditions. Identifying the genetic changes underlying ASD has gradually led to the recognition that some of these conditions may be parts of a disease spectrum rather than isolated anomalies. The characterization of the underlying genetic abnormalities responsible for glaucoma is the first step toward developing diagnostic and screening tests, which could identify individuals at risk for disease before irreversible optic nerve damage occurs. It is also crucial for genetic counseling and risk stratification of later pregnancies. It also aids prenatal testing by various methods allowing for effective genetic counseling. This review summarizes various ocular and systemic conditions that result in secondary developmental glaucoma and provide an overview of the phenotypes, the diagnosis and principles of management of the various disorders.
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继发性发育性青光眼
所有儿童青光眼的基本病理生理都是由于小梁网流出物受损所致。前段发育异常(ASD)是一组与继发性青光眼相关的非获得性异常,其特征是前段结构发育受损。许多基因影响前段的发育。异常发展的原因被认为是多因素的。分子研究有助于我们了解自闭症谱系障碍的分子基础和这些疾病的发育机制。识别ASD背后的遗传变化逐渐使人们认识到,其中一些情况可能是疾病谱系的一部分,而不是孤立的异常。对导致青光眼的潜在基因异常的描述是发展诊断和筛查测试的第一步,这可以在不可逆的视神经损伤发生之前识别出有疾病风险的个体。这对于遗传咨询和后期妊娠的风险分层也是至关重要的。它还通过各种方法帮助产前检测,从而提供有效的遗传咨询。本文综述了导致继发性青光眼的各种眼部和全身疾病,并概述了各种疾病的表型、诊断和治疗原则。
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来源期刊
CiteScore
1.80
自引率
9.10%
发文量
68
审稿时长
19 weeks
期刊最新文献
Advancing glaucoma care with big data and artificial intelligence innovations. Application of artificial intelligence in glaucoma care: An updated review. Artificial intelligence and big data integration in anterior segment imaging for glaucoma. Big data and electronic health records for glaucoma research. Big data for imaging assessment in glaucoma.
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